Variant report

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1010858	0.84[AMR][1000 genomes]
rs10181808	0.90[EUR][1000 genomes]
rs10204999	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10779923	0.88[ASN][1000 genomes]
rs11124654	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1131752	0.82[EUR][1000 genomes]
rs12621073	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12712628	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13035182	0.86[EUR][1000 genomes]
rs17422748	0.82[EUR][1000 genomes]
rs1868867	0.87[ASN][1000 genomes]
rs1901289	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3099941	0.80[EUR][1000 genomes]
rs3099959	0.88[EUR][1000 genomes]
rs3099998	0.80[EUR][1000 genomes]
rs373300	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs384007	0.91[EUR][1000 genomes]
rs384421	0.92[EUR][1000 genomes]
rs390008	0.95[ASN][1000 genomes]
rs4265996	0.88[ASN][1000 genomes]
rs434696	0.91[EUR][1000 genomes]
rs4670267	0.93[ASN][1000 genomes]
rs4670268	0.92[EUR][1000 genomes]
rs4670899	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6544180	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6706091	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6706186	0.88[ASN][1000 genomes]
rs6738069	0.91[EUR][1000 genomes]
rs6744514	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6754902	0.84[EUR][1000 genomes]
rs9808136	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv3322415	chr2:39160473-39163021	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs389023	DHX57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39110200-39186800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:39143800-39164600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:39145800-39172800	Weak transcription	Lung	lung
4	chr2:39147000-39166600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:39149000-39164800	Weak transcription	Ovary	ovary
6	chr2:39150000-39186600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:39150400-39184800	Weak transcription	Psoas Muscle	Psoas
8	chr2:39155800-39174800	Weak transcription	Fetal Lung	lung
9	chr2:39156800-39172800	Weak transcription	Adipose Nuclei	Adipose
10	chr2:39159600-39161400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:39159600-39161400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:39160400-39161600	Enhancers	NHLF	lung
13	chr2:39160400-39163000	Weak transcription	Aorta	Aorta
14	chr2:39160400-39164600	Weak transcription	HepG2	liver
15	chr2:39160400-39186600	Weak transcription	Pancreas	Pancrea

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